Canonical Allele Identifier: CA360377229

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90059144C>T (hg19) ; chr5:g.90763327C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763327C>T , CM000667.2:g.90763327C>T	GRCh38
NC_000005.9:g.90059144C>T , CM000667.1:g.90059144C>T	GRCh37
NC_000005.8:g.90094900C>T	NCBI36
NG_007083.1:g.209528C>T
NG_007083.2:g.238984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12143C>T MANE Select	ENSP00000384582.2:p.Ser4048Leu
ENST00000425867.3:c.1097C>T	ENSP00000392618.3:p.Ser366Leu
ENST00000639431.1:c.265+87118C>T	ENSP00000491057.1:n.265+87118C>T
ENST00000640464.1:n.2562C>T
ENST00000640729.1:n.720C>T
ENST00000405460.6:c.12143C>T	ENSP00000384582.2:p.Ser4048Leu
NM_032119.3:c.12143C>T	NP_115495.3:p.Ser4048Leu
NR_003149.1:n.12156C>T
XM_011543675.1:c.12140C>T	XP_011541977.1:p.Ser4047Leu
XM_011543676.1:c.12062C>T	XP_011541978.1:p.Ser4021Leu
XM_011543677.1:c.9446C>T	XP_011541979.1:p.Ser3149Leu
XM_011543678.1:c.12143C>T	XP_011541980.1:p.Ser4048Leu
NM_032119.4:c.12143C>T MANE Select	NP_115495.3:p.Ser4048Leu
XM_017009963.2:c.12164C>T	XP_016865452.1:p.Ser4055Leu
XM_017009964.2:c.12161C>T	XP_016865453.1:p.Ser4054Leu
XM_017009965.1:c.12161C>T	XP_016865454.1:p.Ser4054Leu
XM_017009966.2:c.12083C>T	XP_016865455.1:p.Ser4028Leu
XM_017009967.1:c.12068C>T	XP_016865456.1:p.Ser4023Leu
XM_017009968.2:c.12164C>T	XP_016865457.1:p.Ser4055Leu
XM_017009969.2:c.12164C>T	XP_016865458.1:p.Ser4055Leu
XM_017009970.2:c.12164C>T	XP_016865459.1:p.Ser4055Leu
XM_017009971.2:c.12164C>T	XP_016865460.1:p.Ser4055Leu
XM_017009972.1:c.5282C>T	XP_016865461.1:p.Ser1761Leu
XM_017009973.1:c.5261C>T	XP_016865462.1:p.Ser1754Leu
NR_003149.2:n.12159C>T